Mutagenetix > Incidental Mutation

Incidental Mutation 'R5677:Tecpr1'

442778

Institutional Source

Beutler Lab

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

MMRRC Submission

043316-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5677 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144194442-144223615 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 144218633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 36 (K36*)

Ref Sequence

ENSEMBL: ENSMUSP00000082844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085701]

AlphaFold

Q80VP0

Predicted Effect

probably null
Transcript: ENSMUST00000085701
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: K36*

Domain	Start	End	E-Value	Type
TECPR	23	59	8.98e1	SMART
DysFN	64	125	6.72e-24	SMART
DysFC	137	170	1.89e-9	SMART
TECPR	192	225	1.79e-1	SMART
TECPR	234	270	2.5e-9	SMART
TECPR	279	317	4.99e-9	SMART
TECPR	326	361	2.42e-7	SMART
low complexity region	381	394	N/A	INTRINSIC
PH	614	724	1.69e-2	SMART
TECPR	711	750	1.88e-4	SMART
TECPR	766	800	3.27e-4	SMART
DysFN	821	882	2.95e-20	SMART
DysFC	893	926	1.66e-14	SMART
TECPR	940	974	1.69e1	SMART
TECPR	983	1019	1.45e-5	SMART
TECPR	1028	1065	1.51e-8	SMART
TECPR	1074	1109	1.59e-2	SMART
low complexity region	1125	1137	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196360

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,986,229 (GRCm38)	V22I	probably benign	Het
4930430A15Rik	T	C	2: 111,211,565 (GRCm38)	T342A	probably benign	Het
4931423N10Rik	T	A	2: 23,212,718 (GRCm38)	L156Q	probably damaging	Het
Abca8a	A	T	11: 110,038,399 (GRCm38)	V1296D	possibly damaging	Het
Abca8b	C	T	11: 109,940,861 (GRCm38)	S1328N	probably damaging	Het
Adcy1	G	A	11: 7,161,914 (GRCm38)	M926I	probably damaging	Het
Aff4	G	T	11: 53,400,275 (GRCm38)	M687I	possibly damaging	Het
Agbl2	T	A	2: 90,807,978 (GRCm38)	Y636N	possibly damaging	Het
Agtr1a	A	T	13: 30,381,584 (GRCm38)	I211F	probably damaging	Het
Alkbh8	T	G	9: 3,385,147 (GRCm38)	S480A	possibly damaging	Het
Ankrd13b	A	T	11: 77,477,544 (GRCm38)	V84E	probably damaging	Het
Ap3b1	C	T	13: 94,528,196 (GRCm38)	T881I	unknown	Het
Apbb1	A	C	7: 105,559,246 (GRCm38)	D617E	probably damaging	Het
Apobec4	A	G	1: 152,757,282 (GRCm38)	R354G	probably benign	Het
BC003331	G	A	1: 150,374,837 (GRCm38)	L319F	probably damaging	Het
Brdt	T	G	5: 107,348,617 (GRCm38)	C198W	possibly damaging	Het
Cacna1b	G	T	2: 24,679,358 (GRCm38)	H851Q	possibly damaging	Het
Car2	G	T	3: 14,898,055 (GRCm38)	V217F	possibly damaging	Het
Ccdc24	A	C	4: 117,869,880 (GRCm38)		probably benign	Het
Chodl	C	A	16: 78,941,315 (GRCm38)	A57E	probably damaging	Het
Clgn	G	T	8: 83,409,538 (GRCm38)	C185F	probably damaging	Het
Cltc	G	T	11: 86,705,242 (GRCm38)	N1223K	probably damaging	Het
Cnot10	T	C	9: 114,629,093 (GRCm38)	N115S	probably damaging	Het
Col12a1	T	C	9: 79,699,321 (GRCm38)	R607G	probably damaging	Het
Cpd	A	G	11: 76,799,825 (GRCm38)	V835A	probably benign	Het
Csmd3	G	C	15: 48,622,051 (GRCm38)	L153V	probably damaging	Het
Ctr9	A	G	7: 111,044,002 (GRCm38)	H527R	probably benign	Het
Cwc22	G	A	2: 77,929,443 (GRCm38)	R87W	probably damaging	Het
D930020B18Rik	T	A	10: 121,669,201 (GRCm38)	N107K	probably benign	Het
Dgkg	C	A	16: 22,570,171 (GRCm38)	V418L	probably benign	Het
Dhx40	A	G	11: 86,800,963 (GRCm38)		probably null	Het
Diaph1	A	T	18: 37,855,951 (GRCm38)	M910K	probably damaging	Het
Diras2	T	A	13: 52,507,675 (GRCm38)	M199L	possibly damaging	Het
Dnah8	G	A	17: 30,748,568 (GRCm38)	D2585N	probably benign	Het
Dock5	T	A	14: 67,777,603 (GRCm38)	Q1302H	probably benign	Het
Dync1i2	T	C	2: 71,228,623 (GRCm38)	S90P	probably benign	Het
E2f8	A	T	7: 48,867,195 (GRCm38)	V812E	probably damaging	Het
Egfem1	C	A	3: 29,690,174 (GRCm38)	Q521K	probably damaging	Het
Fbxl18	A	T	5: 142,878,720 (GRCm38)	C699*	probably null	Het
Fgf3	C	T	7: 144,838,783 (GRCm38)	R26*	probably null	Het
Fpr-rs7	T	G	17: 20,114,103 (GRCm38)	I42L	probably benign	Het
Gm13101	A	T	4: 143,965,138 (GRCm38)	D338E	possibly damaging	Het
Gm3159	T	A	14: 4,398,582 (GRCm38)	M91K	probably damaging	Het
Gprin3	A	G	6: 59,353,892 (GRCm38)	S477P	possibly damaging	Het
Grm8	A	T	6: 27,761,204 (GRCm38)		probably null	Het
Hepacam2	A	T	6: 3,466,142 (GRCm38)	D420E	probably damaging	Het
Hmcn1	A	T	1: 150,609,778 (GRCm38)	W4358R	probably benign	Het
Ifna6	G	A	4: 88,827,719 (GRCm38)	A102T	probably benign	Het
Ighv2-2	T	C	12: 113,588,522 (GRCm38)	Q32R	probably benign	Het
Igkv1-131	T	A	6: 67,766,258 (GRCm38)	Q47L	possibly damaging	Het
Il16	T	C	7: 83,674,553 (GRCm38)	E263G	probably damaging	Het
Kansl1	A	T	11: 104,335,148 (GRCm38)	C981S	probably benign	Het
Lrp1	A	T	10: 127,574,429 (GRCm38)	F1483I	probably damaging	Het
Ltf	T	C	9: 111,020,912 (GRCm38)	M1T	probably null	Het
Ly75	C	T	2: 60,299,082 (GRCm38)	R1653H	probably benign	Het
Macrod2	T	C	2: 142,176,667 (GRCm38)	F240S	probably damaging	Het
Man1c1	T	C	4: 134,569,060 (GRCm38)	E433G	probably damaging	Het
Mansc4	A	T	6: 147,081,549 (GRCm38)	M130K	probably benign	Het
Mccc1	C	T	3: 35,990,048 (GRCm38)		probably null	Het
Mink1	G	T	11: 70,605,165 (GRCm38)	R75L	possibly damaging	Het
Mst1	A	G	9: 108,081,286 (GRCm38)	D65G	probably damaging	Het
Myo9b	C	T	8: 71,343,686 (GRCm38)	A857V	probably damaging	Het
Ndufa4	A	G	6: 11,900,575 (GRCm38)	V70A	probably benign	Het
Npat	T	A	9: 53,555,100 (GRCm38)	S230T	probably benign	Het
Nr1d1	A	G	11: 98,771,308 (GRCm38)	Y167H	probably damaging	Het
Oca2	A	G	7: 56,414,462 (GRCm38)	D735G	probably damaging	Het
Olfr13	T	C	6: 43,174,331 (GRCm38)	V115A	probably benign	Het
Olfr1359	C	T	13: 21,703,223 (GRCm38)	T74I	probably benign	Het
Olfr1383	A	G	11: 49,523,944 (GRCm38)	T74A	probably damaging	Het
Olfr835	T	A	9: 19,035,558 (GRCm38)	I145N	possibly damaging	Het
Otop1	A	G	5: 38,300,163 (GRCm38)	Y422C	probably damaging	Het
Pde4dip	G	A	3: 97,841,648 (GRCm38)	R126*	probably null	Het
Pdp2	C	T	8: 104,594,688 (GRCm38)	P390S	probably damaging	Het
Pds5b	A	T	5: 150,716,461 (GRCm38)	T14S	possibly damaging	Het
Pfkp	T	C	13: 6,588,595 (GRCm38)	E580G	probably damaging	Het
Piezo2	G	C	18: 63,117,697 (GRCm38)	L444V	probably benign	Het
Piezo2	A	T	18: 63,117,696 (GRCm38)	L212Q	possibly damaging	Het
Pla2g4d	T	A	2: 120,278,948 (GRCm38)	T207S	possibly damaging	Het
Plk2	C	A	13: 110,399,057 (GRCm38)	T471K	possibly damaging	Het
Ppp1r3g	G	A	13: 35,969,262 (GRCm38)	E222K	probably damaging	Het
Prkcg	A	G	7: 3,323,458 (GRCm38)	D480G	probably damaging	Het
Pxdc1	T	A	13: 34,652,195 (GRCm38)	T81S	probably benign	Het
Rnf150	A	T	8: 83,003,599 (GRCm38)	K253*	probably null	Het
Rsg1	C	T	4: 141,219,866 (GRCm38)	P186L	probably benign	Het
Sae1	T	C	7: 16,370,462 (GRCm38)		probably null	Het
Scin	C	T	12: 40,063,259 (GRCm38)	D538N	probably damaging	Het
Serpinb3c	C	A	1: 107,271,803 (GRCm38)	K329N	probably damaging	Het
Sgo2b	T	A	8: 63,926,974 (GRCm38)	K941N	possibly damaging	Het
Six1	C	T	12: 73,046,284 (GRCm38)	S48N	possibly damaging	Het
Slc39a8	G	A	3: 135,884,688 (GRCm38)	G381R	probably damaging	Het
Slc9b1	A	G	3: 135,357,559 (GRCm38)	K35E	unknown	Het
Srek1	C	T	13: 103,759,244 (GRCm38)	A274T	probably damaging	Het
Steap2	A	T	5: 5,677,497 (GRCm38)	Y279*	probably null	Het
Svil	T	A	18: 5,046,823 (GRCm38)	L110*	probably null	Het
Syncrip	T	C	9: 88,456,709 (GRCm38)		probably benign	Het
Tcf20	A	G	15: 82,853,242 (GRCm38)	I1336T	probably benign	Het
Tenm2	A	G	11: 36,141,683 (GRCm38)	V670A	probably damaging	Het
Thbd	G	A	2: 148,407,366 (GRCm38)	T194I	probably damaging	Het
Tm9sf2	A	T	14: 122,151,962 (GRCm38)		probably null	Het
Tmtc4	A	T	14: 122,950,499 (GRCm38)	I225N	probably damaging	Het
Tpp1	C	T	7: 105,747,536 (GRCm38)	V425M	probably damaging	Het
Trbc2	T	A	6: 41,547,812 (GRCm38)	Y144*	probably null	Het
Trps1	T	C	15: 50,846,108 (GRCm38)	D282G	probably damaging	Het
Tsc22d4	T	A	5: 137,747,142 (GRCm38)	S9R	probably damaging	Het
Upp1	T	A	11: 9,136,025 (GRCm38)	D287E	probably benign	Het
Uso1	A	C	5: 92,201,299 (GRCm38)	Q916H	probably damaging	Het
Uty	T	A	Y: 1,134,902 (GRCm38)	Y884F	probably damaging	Het
Vmn1r222	T	C	13: 23,232,780 (GRCm38)	R88G	probably damaging	Het
Vmn1r79	T	C	7: 12,177,001 (GRCm38)	V270A	possibly damaging	Het
Zbtb22	T	C	17: 33,917,735 (GRCm38)	S285P	probably benign	Het
Zfp385a	A	G	15: 103,318,065 (GRCm38)	V82A	probably damaging	Het
Zfp59	T	C	7: 27,854,169 (GRCm38)	F349L	probably benign	Het
Zfp780b	T	G	7: 27,962,799 (GRCm38)	H777P	probably benign	Het
Zfp82	T	C	7: 30,057,124 (GRCm38)	T178A	probably benign	Het
Zfp850	T	C	7: 27,989,088 (GRCm38)	Y565C	probably damaging	Het
Zfp957	A	G	14: 79,212,767 (GRCm38)	Y531H	probably damaging	Het

Other mutations in Tecpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Tecpr1	APN	5	144,208,593 (GRCm38)	critical splice donor site	probably null
IGL01774:Tecpr1	APN	5	144,211,540 (GRCm38)	missense	probably damaging	0.97
IGL01960:Tecpr1	APN	5	144,216,919 (GRCm38)	missense	probably benign	0.00
IGL01973:Tecpr1	APN	5	144,197,988 (GRCm38)	splice site	probably benign
IGL02244:Tecpr1	APN	5	144,210,003 (GRCm38)	missense	probably benign
IGL02247:Tecpr1	APN	5	144,206,554 (GRCm38)	missense	possibly damaging	0.64
IGL02423:Tecpr1	APN	5	144,203,487 (GRCm38)	missense	possibly damaging	0.88
IGL02679:Tecpr1	APN	5	144,206,546 (GRCm38)	missense	probably benign	0.28
larghissimo	UTSW	5	144,217,257 (GRCm38)	missense	probably damaging	1.00
PIT4531001:Tecpr1	UTSW	5	144,214,067 (GRCm38)	missense	probably damaging	0.96
R0121:Tecpr1	UTSW	5	144,210,199 (GRCm38)	missense	probably benign	0.02
R0125:Tecpr1	UTSW	5	144,197,899 (GRCm38)	missense	probably damaging	1.00
R0194:Tecpr1	UTSW	5	144,218,517 (GRCm38)	missense	probably damaging	1.00
R0376:Tecpr1	UTSW	5	144,207,476 (GRCm38)	missense	possibly damaging	0.94
R0441:Tecpr1	UTSW	5	144,195,941 (GRCm38)	missense	probably benign
R0504:Tecpr1	UTSW	5	144,214,081 (GRCm38)	missense	probably damaging	0.99
R0538:Tecpr1	UTSW	5	144,206,274 (GRCm38)	missense	probably damaging	0.99
R0586:Tecpr1	UTSW	5	144,217,401 (GRCm38)	missense	probably damaging	1.00
R0607:Tecpr1	UTSW	5	144,212,590 (GRCm38)	missense	probably damaging	1.00
R0608:Tecpr1	UTSW	5	144,211,499 (GRCm38)	missense	probably damaging	1.00
R0656:Tecpr1	UTSW	5	144,214,053 (GRCm38)	splice site	probably null
R0835:Tecpr1	UTSW	5	144,212,592 (GRCm38)	missense	possibly damaging	0.81
R1080:Tecpr1	UTSW	5	144,216,929 (GRCm38)	missense	probably damaging	1.00
R1394:Tecpr1	UTSW	5	144,206,539 (GRCm38)	missense	possibly damaging	0.77
R1597:Tecpr1	UTSW	5	144,214,310 (GRCm38)	missense	probably benign	0.00
R1663:Tecpr1	UTSW	5	144,197,944 (GRCm38)	missense	probably benign	0.17
R1785:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R1786:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R1833:Tecpr1	UTSW	5	144,208,608 (GRCm38)	missense	probably damaging	0.99
R1883:Tecpr1	UTSW	5	144,206,529 (GRCm38)	missense	probably benign	0.03
R1988:Tecpr1	UTSW	5	144,204,697 (GRCm38)	missense	possibly damaging	0.94
R2130:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2131:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2132:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2133:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2172:Tecpr1	UTSW	5	144,211,456 (GRCm38)	missense	probably benign	0.10
R2172:Tecpr1	UTSW	5	144,196,417 (GRCm38)	missense	probably damaging	1.00
R2290:Tecpr1	UTSW	5	144,214,063 (GRCm38)	missense	probably damaging	0.99
R3691:Tecpr1	UTSW	5	144,209,979 (GRCm38)	missense	probably benign	0.10
R4027:Tecpr1	UTSW	5	144,206,259 (GRCm38)	missense	probably benign	0.41
R4587:Tecpr1	UTSW	5	144,212,590 (GRCm38)	missense	probably damaging	0.96
R4684:Tecpr1	UTSW	5	144,207,437 (GRCm38)	missense	probably benign	0.16
R4864:Tecpr1	UTSW	5	144,214,117 (GRCm38)	missense	probably benign	0.00
R4932:Tecpr1	UTSW	5	144,204,658 (GRCm38)	missense	probably damaging	0.97
R4955:Tecpr1	UTSW	5	144,217,257 (GRCm38)	missense	probably damaging	1.00
R5043:Tecpr1	UTSW	5	144,197,854 (GRCm38)	splice site	probably null
R5459:Tecpr1	UTSW	5	144,207,416 (GRCm38)	missense	probably damaging	1.00
R5579:Tecpr1	UTSW	5	144,214,344 (GRCm38)	missense	possibly damaging	0.55
R5679:Tecpr1	UTSW	5	144,207,423 (GRCm38)	missense	possibly damaging	0.69
R5802:Tecpr1	UTSW	5	144,206,546 (GRCm38)	missense	probably benign	0.28
R6000:Tecpr1	UTSW	5	144,211,421 (GRCm38)	missense	probably benign	0.02
R6022:Tecpr1	UTSW	5	144,199,191 (GRCm38)	missense	possibly damaging	0.95
R6114:Tecpr1	UTSW	5	144,204,640 (GRCm38)	missense	possibly damaging	0.81
R6251:Tecpr1	UTSW	5	144,198,576 (GRCm38)	missense	probably damaging	0.97
R6372:Tecpr1	UTSW	5	144,216,958 (GRCm38)	missense	probably damaging	1.00
R6493:Tecpr1	UTSW	5	144,209,974 (GRCm38)	missense	probably benign
R7276:Tecpr1	UTSW	5	144,217,020 (GRCm38)	nonsense	probably null
R7314:Tecpr1	UTSW	5	144,217,332 (GRCm38)	missense	probably damaging	1.00
R7375:Tecpr1	UTSW	5	144,208,599 (GRCm38)	missense	possibly damaging	0.68
R7632:Tecpr1	UTSW	5	144,218,726 (GRCm38)	missense	probably benign	0.03
R7702:Tecpr1	UTSW	5	144,203,418 (GRCm38)	missense	probably damaging	1.00
R8135:Tecpr1	UTSW	5	144,198,602 (GRCm38)	missense	probably damaging	0.99
R8406:Tecpr1	UTSW	5	144,200,840 (GRCm38)	missense	probably damaging	1.00
R8844:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8856:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8857:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8866:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8903:Tecpr1	UTSW	5	144,214,027 (GRCm38)	intron	probably benign
R8926:Tecpr1	UTSW	5	144,216,962 (GRCm38)	missense	probably damaging	1.00
R9218:Tecpr1	UTSW	5	144,217,231 (GRCm38)	missense	possibly damaging	0.70
R9423:Tecpr1	UTSW	5	144,218,578 (GRCm38)	missense	probably damaging	0.98
RF001:Tecpr1	UTSW	5	144,217,386 (GRCm38)	missense	probably damaging	0.99
Z1176:Tecpr1	UTSW	5	144,218,591 (GRCm38)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GGAGATCAGCACCCTAATTCAC -3'
(R):5'- ACAGGGTTCTCACGATGTCC -3'

Sequencing Primer
(F):5'- AATACTGCTGACCACCTTGG -3'
(R):5'- TCACGATGTCCCTGGTCCAG -3'

Posted On

2016-11-09